Study Related Publications
Alter BP: Modern review of congenital hypoplastic anemia. Journal of Pediatric Hematology/Oncology 23:383-384, 2001.
Elghetany MT, Alter BP: p53 protein overexpression in bone marrows of patients with Shwachman-Diamond Syndrome has a prevalence similar to that of patients with refractory anemia. Archives of Pathology and Laboratory Medicine 126:452-455, 2002.
Alter BP: Radiosensitivity in Fanconi’s anemia patients. Radiotherapy and Oncology 62: 345-347, 2002.
Freedman MH and Alter BP: Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Seminars in Hematology 39:128-133, 2002.
Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T: Shwachman-Diamond Syndrome: report from an international conference. Journal of Pediatrics 141:266-270, 2002.
Alter BP, Lipton JM: Bone marrow failure syndromes. In: Rudolph's
Pediatrics, 21st edition, Appleton Lange, Norwalk, CT, 2003,
pp 1562-1567.
Elghetany MT and Alter BP: P53 Protein overexpression in Shwachman-Diamond Syndrome, reply. Archives of Pathology and Laboratory Medicine 126:1158, 2002.
Alter BP: Bone marrow failure syndromes in children. Pediatric Clinics of North America 49:973-988, 2002.
Freedman MH, Alter BP: Malignant myeloid transformation in congenital forms of neutropenia. Israeli Medical Association Journal 4:1011-1014, 2002.
Alter BP: Cancer in Fanconi Anemia, 1927-2001. Cancer 97:425-440, 2003.
Rosenberg PS, Greene MH, Alter BP: Cancer Incidence in persons with Fanconi Anemia. Blood 101:822-826, 2003.
Alter BP: Inherited bone marrow failure syndromes. In: Nathan and
Oski's Hematology of Infancy and Childhood, sixth edition,
DG Nathan, SH Orkin, AT Look, D Ginsburg, eds, WB Saunders Inc,
Philadelphia, 2003, pp 280-365.
Alter BP and Elghetany MT: The
CCC System – is it really the answer to pediatric MDS? Journal
of Pediatric Hematology/Oncology 25: 426-427, 2003 (letter).
Rosenberg PS, Huang Y, Alter BP: Individualized risk of adverse events in Fanconi Anemia (FA). Blood 104: 350-355, 2004.
Alter BP: Growth hormone and the risk of malignancy. Pediatric Blood & Cancer 43:534-535, 2004.
Velazquez I, Alter BP: Androgens
and liver tumors: Fanconi's Anemia and non-Fanconi's Conditions.
American Journal of Hematology 77:257-267,
2004.
Rosenberg PS, Socié G, Alter BP, Gluckman E: Risk
of head and neck squamous cell cancer and death in patients with
Fanconi Anemia who did and did not receive transplants. Blood
105: 67-73, 2005.
Alter BP: Diamond-Blackfan
Anemia: A "Cultural" Diagnosis. Blood
105: 435-436, 2005.
Alter BP, Joenje H, Oostra AB, Pals G: Fanconi
Anemia: Adult Head and Neck Cancer and Hematopoietic Mosaicism.
Archives of Otolaryngology-Head & Neck Surgery
131:635-639, 2005.
Rosenberg PS, Alter BP, Socié G, Gluckman E: Secular
Trends in Outcomes for Fanconi Anemia Patients Who Receive Transplants:
Implications for Future Studies. Biology of Blood
and Marrow Transplantation 11:672-679, 2005.
Alter BP: Fanconi’s Anemia,
transplantation, and cancer. Pediatric Transplantation
9 (Suppl. 7): 81-86, 2005.
Alter BP: The
Association between FANCD1/BRCA2 Mutations and Leukemia. British
Journal of Haematology 133:446-448, 2006.
Braun M, Giri N, Alter BP and Cowen EW: Thrombocytopenia,
multiple mucosal squamous cell cancers, and dyspigmentation.
Journal of the American Academy of Dermatology
54:1056-1059, 2006.
Al-Rahawan MM, Giri N, Alter BP: Intensive immunosuppression therapy for aplastic anemia associated with Dyskeratosis
Congenita. International Journal of Hematology
83:275-276, 2006.
Alter BP: Inherited
Forms of Aplastic Anemia: the Inherited Bone Marrow Failure Syndromes
(IBMFS). In: Current Pediatric Therapy,
18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds,
Elsevier, Philadelphia, 2006, pp 938-941.
Giri N, Alter BP: Acquired
Aplastic Anemia. In: Current Pediatric Therapy, 18th edition,
FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia,
2006, pp 942-944.
Bagby GC, Alter BP: Fanconi
Anemia. Seminars in Hematology 43:147-156,
2006.
Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM,
Chanock SJ, Alter BP: Mutations
in the Reverse Transcriptase Component of Telomerase (TERT) in Patients
with Bone Marrow Failure. Letter to the Editor. Blood
Cells, Molecules, and Disease 37:134-136, 2006.
Hutson SP, Alter BP: Experiences
of Siblings of Patients with Fanconi's Anemia. Pediatric
Blood & Cancer 48:72-79, 2007.
Alter BP, Rosenberg PS, Brody L: Clinical
and molecular features associated with biallelic mutations in FANCD1/BRCA2.
Journal of Medical Genetics 44:1-9, 2007.
PMCID: PMC2597904.
Tamary H and Alter BP: Current
Diagnosis of Inherited Bone Marrow Failure Syndromes. Pediatric
Hematology and Oncology 24:87-99, 2007.
Alter BP, Rosenberg PS: Letter to Blood: Granulocyte-colony
stimulating factor and aplastic anemia. Blood
109:4589, 2007.
Giri N, Batista D, Alter BP, Stratakis CA: Endocrine
Abnormalities in Patients with Fanconi Anemia. Journal
of Clinical Endocrinology and Metabolism 92:2624-2631,
2007.
Alter BP, Baerlocher G, Savage SA, Chanock SJ, Weksler BB, Willner
J, Peters JA, Giri N, Lansdorp PM: Very
short telomere length by flow fluorescence in situ hybridization
identifies patients with dyskeratosis congenita. Blood
110:1439-1447, 2007. PMCID: PMC1975834.
Giri N, Pitel PA, Green D, Alter BP: Splenic
peliosis and rupture in patients with dyskeratosis congenita on
androgens and granulocyte-colony stimulating factor. British
Journal of Haematology 138:815-817, 2007.
Alter BP: Diagnosis,
genetics, and management of inherited bone marrow failure syndromes.
Hematology (Am Soc Hematol Educ Program) 2007:29-39.
Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP:
TINF2, a component
of the shelterin telomere protection complex, is mutated in Dyskeratosis
Congenita. American Journal of Human Genetics
82:501-509, 2008. PMCID: PMC2427222.
Savage SA, Alter BP: The
role of telomere biology in bone marrow failure and other disorders.
Mechanisms of Aging and Development 129:35-47,
2008. PMCID: PMC2278290.
Rosenberg PS, Alter BP, Ebell W: Cancer
risks in Fanconi anemia: Findings from the German Fanconi Anemia
(GEFA) Registry. Haematologica 93:511-517,
2008.
Atkinson JC, Harvey KE, Domingo, DL, Trujillo MI, Guadagnini J-P,
Gollins S, Giri N, Hart TC, Alter BP: Oral
and Dental Phenotype of Dyskeratosis Congenita. Oral
Diseases 14:419-427, 2008. PMCID: PMC3142998.
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl
J, Karlsson S, Liu JM, LeBlanc T, Paley C, Kang EM, Leder EJ, Atsidaftos
E, Shimamura A, Bessler M, Glader B, Lipton JM, on behalf of the
participants of the Sixth Annual Daniella Maria Arturi International
Consensus Conference: Diagnosing
and treating Diamond Blackfan Anaemia: Results of an international
clinical consensus conference. British Journal of
Haematology 142:859-876, 2008. PMCID: PMC2654478.
Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT: Bone
marrow cell cycle markers in inherited bone marrow failure syndromes.
Leukemia Research 32:1793-1799, 2008. PMCID:
PMC2716700.
Denny CC, Alter BP, Giri N, Peters J, Wilfond BS: All
in the Family: Disclosure of "Unwanted" Information to
an Adolescent to Benefit a Relative. American Journal
of Medical Genetics, Part A 146A:2719-2724, 2008. PMCID:
PMC3143002.
Shimamura A, Alter BP: Inherited Aplastic Anemia Syndromes. In:
Wintrobe's Clinical Hematology, 12th edition, JP Greer, J
Foerster, JN Lukens, GM Rodgers, F Paraskevas, BE Glader, DA Arber,
RT Means, eds, Lippincott Williams & Wilkins, Baltimore, 2009, pp
1173-1184.
Savage SA, Alter BP: Dyskeratosis
congenita. Hematology/Oncology Clinics of North America
23:215-231, 2009. PMCID: PMC2702847.
Alter BP, Giri N, Savage SA, Rosenberg PS: Cancer
in dyskeratosis congenita. Blood 113:
6549-6557, 2009. PMCID: PMC2710915.
Mason III JO, Yunker JJ, Nixon PA, Vail RS, Tsilou E, Giri N, Alter
BP: Proliferative Retinopathy as a Complication of Aplastic Anemia
and Dyskeratosis Congenita. Retinal Cases & Brief
Reports 3:259-262, 2009.
Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL,
Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Waes CV, Wong
JMY, Young NS, Alter BP: Meeting
Report: Dyskeratosis congenita: The first NIH clinical research
workshop. Pediatric Blood and Cancer 53:520-523,
2009. PMCID: PMC2739803.
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP:
Ocular and
orbital manifestations of the inherited bone marrow failure syndromes:
Fanconi anemia and dyskeratosis congenita. Ophthalmology
117:615-622, 2010. PMCID: PMC2830377.
Shimamura A, Alter BP: Pathophysiology
and Management of Inherited Bone Marrow Failure Syndromes. Blood
Reviews 24:101-122, 2010.
Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr
A, Greene MH, Rosenberg PS: Malignancies
and Survival Patterns in the National Cancer Institute Inherited
Bone Marrow Failure Syndromes Cohort Study. British
Journal of Haematology 150:179-188, 2010. PMCID: PMC3125983.
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T,
Aviner S, Stepensky P, Vilk-Ravel SS, Bitan M, Kaplinsky C, Ben
Barak A, Ronit Elhasid R, Kapelusnik J, Koren A, Levin C, Atias
D, Laor R, Yaniv I, Rosenberg PS, Alter BP: Frequency
and Natural History of Inherited Bone Marrow Failure Syndromes:
the Israeli Inherited Bone Marrow Failure Registry. Haematologica
95:1300-1307, 2010. PMCID: PMC2913078.
Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA: Telomere
Length in Blood, Buccal Cells, and Fibroblasts from Patients with
Inherited Bone Marrow Failure Syndromes. Aging
2:867-874, 2010. PMCID: PMC3006028.
Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen
R, Alter BP, Artandi SE: Disruption
of telomerase trafficking by TCAB1 mutation causes dyskeratosis
congenita. Genes & Development 25:11-16,
2011. PMCID: PMC3012932.
Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP,
Tolar J: Disease-specific
Hematopoietic Cell Transplantation: Reduced Intensity Conditioning
Regimen for Dyskeratosis Congenita. Bone Marrow Transplantation
46:98-104, 2011.
Alter BP, Kupfer G: Fanconi Anemia (February 2011). In: GeneReviews
at GeneTests: Medical Genetics
Information Resource [database online]. Copyright, University
of Washington, Seattle, 1997-2010.
Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter
BP: Sequence
analysis of the shelterin telomere protection complex genes in dyskeratosis
congenita. Journal of Medical Genetics
48:285-288, 2011.
Rochowski A, Sun C, Glogauer M, Alter BP: Neutrophil
Functions in Patients with Inherited Bone Marrow Failure Syndromes.
Pediatric Blood and Cancer 57:306-309, 2011.
PMCID: PMC3116953.
Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, Savage
SA: Lung Transplantation
for Pulmonary Fibrosis in Dyskeratosis Congenita: Case Report and
Systematic Literature Review. BMC Blood Disorders.
Jun 15;11(1):3, 2011. PMCID: PMC3141321.
Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary
SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP,
Cech TR, Savage SA, Reijo Pera RA, Artandi SE: Telomere
shortening and loss of self-renewal in dyskeratosis congenita induced
pluripotent stem cells. Nature 474(7361):
399-402, 2011.
Rosenberg PS, Tamary H, Alter BP: How
High are Carrier Frequencies of Rare Recessive Syndromes? Estimates
for Fanconi Anemia in the United States and Israel. American
Journal of Medical Genetics Part A 155:1877-1883. PMCID:
PMC3140593.
Lipton JM, Alter BP: Fanconi
Anemia. Medscape Reference. Updated July
26, 2011.
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